ClinVar Miner

Submissions for variant NC_000012.12:g.121626839C>G

dbSNP: rs1892787893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893461 SCV002176906 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2021-07-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with glycine at codon 33 of the ORAI1 protein (p.Arg33Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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